Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TSC2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1022", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0109, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00111, "gnomad_AFR_maf": 0.0009303, "gnomad_AMR_maf": 6.283e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01325, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.107e-05, "gnomad_OTH_maf": 0.0007581, "gnomad_SAS_maf": 7.342e-05, "ESP_AA_maf": 0.0004805, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.215578, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2121870, "genomic_position_hg38": 2071869, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.645312", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2032G>A", "protein_change": "p.Ala678Thr", "transcript_id": "NM_000548.5", "dbsnp_id": "rs200494044", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI475" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1022/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1022/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1022/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1022/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1022/?format=api" } }, { "type": "SmallVariant", "id": "1031", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.991373, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2127711, "genomic_position_hg38": 2077710, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.699763", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI480" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1031/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1031/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1031/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1031/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1031/?format=api" } }, { "type": "SmallVariant", "id": "1037", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 0.001245, "gnomad_AFR_maf": 0.0002293, "gnomad_AMR_maf": 0.0002425, "gnomad_ASJ_maf": 0.01314, "gnomad_EAS_maf": 8.848e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0007326, "gnomad_OTH_maf": 0.006122, "gnomad_SAS_maf": 8.777e-05, "ESP_AA_maf": 0.0002573, "ESP_EA_maf": 0.001084 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.04488, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2112989, "genomic_position_hg38": 2062988, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.737239", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI484" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1037/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1037/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1037/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1037/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1037/?format=api" } }, { "type": "SmallVariant", "id": "1039", "attributes": { "frequencies": { "KGP_genomes_maf": 0.007, "KGP_genomes_AFR_maf": 0.0257, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001446, "gnomad_AFR_maf": 0.01954, "gnomad_AMR_maf": 0.0009544, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.975e-05, "gnomad_OTH_maf": 0.0006542, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.01888, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.163265, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2130190, "genomic_position_hg38": 2080189, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.749813", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI485" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1039/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1039/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1039/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1039/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1039/?format=api" } }, { "type": "SmallVariant", "id": "1040", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002317, "gnomad_AFR_maf": 0.003278, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001635, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.003412, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.448116, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2138074, "genomic_position_hg38": 2088073, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.755960", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI485" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1040/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1040/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1040/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1040/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1040/?format=api" } }, { "type": "SmallVariant", "id": "1054", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.093484, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2114426, "genomic_position_hg38": 2064425, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.843360", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI496" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1054/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1054/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1054/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1054/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1054/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 6 } }